A novel pathogenic splicing mutation of in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay.

Aim: To report a novel splicing mutation in the gene (encoding retinitis pigmentosa GTPase regulator) in a three-generation Chinese family with X-linked retinitis pigmentosa (XLRP).

Methods: Comprehensive ophthalmic examinations including best corrected visual acuity, fundus photography, vision field, and pattern-visual evoked potential were performed to identify the disease phenotype of a six-year-old boy from the family (proband). Genomic DNA was extracted from peripheral blood of five available members of the pedigree.

A phase III randomized, double-blind, placebo-controlled trial of the denosumab biosimilar QL1206 in postmenopausal Chinese women with osteoporosis and high fracture risk.

The current study evaluated the efficacy and safety of a denosumab biosimilar, QL1206 (60 mg), compared to placebo in postmenopausal Chinese women with osteoporosis and high fracture risk. At 31 study centers in China, a total of 455 postmenopausal women with osteoporosis and high fracture risk were randomly assigned to receive QL1206 (60 mg subcutaneously every 6 months) or placebo. From baseline to the 12-month follow-up, the participants who received QL1206 showed significantly increased bone mineral density (BMD) values (mean difference and 95% CI) in the lumbar spine: 4.

A novel disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.

Background: This study aims to identify the underlying genetic cause of a Chinese patient with Leber congenital amaurosis (LCA).

Methods: Detailed clinical data and family history were collected. A medical diagnostic panel sequencing covering 4450 genes was conducted.

Inverted U-Shaped Associations between Glycemic Indices and Serum Uric Acid Levels in the General Chinese Population: Findings from the China Cardiometabolic Disease and Cancer Cohort (4C) Study.

Objective: The relationship between serum uric acid (SUA) levels and glycemic indices, including plasma glucose (FPG), 2-hour postload glucose (2h-PG), and glycated hemoglobin (HbA1c), remains inconclusive. We aimed to explore the associations between glycemic indices and SUA levels in the general Chinese population.

Methods: The current study was a cross-sectional analysis using the first follow-up survey data from The China Cardiometabolic Disease and Cancer Cohort Study.

Genetic association between IL-17F gene polymorphisms and the pathogenesis of Graves' Disease in the Han Chinese population.

Background: Graves' Disease (GD) is a common and complex disorder, with a strong hereditary component. IL-17F is a potent cytokine and a potential contributor to the etiology of various human autoimmune diseases. In the present study, we focused on the relationship between polymorphisms in the IL-17F gene and GD susceptibility through a case-control association study in two independent Chinese cohorts.

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Objective: To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation.

Methods: Two patients with Avellino corneal dystrophy (ACD), four patients with lattice corneal dystrophy type I (LCD I) from one family, and three patients with macular corneal dystrophy type I (MCD I) were subjected to both clinical and genetic examinations. Slit lamp examination was performed for all the subjects to assess their corneal phenotypes.

Low levels of hydrogen peroxide stimulate corneal epithelial cell adhesion, migration, and wound healing.

Purpose: Intracellular reactive oxygen species have been reported to associate with growth factor and integrin signalings in promoting cell adhesion in many cell types. This study is to explore if exogenous H(2)O(2) at low levels can be beneficial to cell adhesion, migration, and wound healing.

Methods: Primary rabbit corneal epithelial cells treated with 0-70 μM H(2)O(2) were tested for viability by MTT assay, adhesion by centrifugation assay, focal contacts of vinculin and F-actin by immunofluorescence, activated Src(pY416), EGF receptor (pY845), vinculin(pY1065), FAK(pY397), and FAK(pY576) by immunoblotting.

[Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy].

Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. The gene responsible for GDLD, M1S1 is mapped on the short arm of chromosome 1 (1p), but the possible etiology of this disease remains unclear. Corneal transplantation is the only treatment for visual rehabilitation.

[Noise magnetic fields block co-suppression effect induced by power frequency magnetic field and phorbol ester].

Objectives: To explore intervention with electromagnetic noise for co-suppression effect on gap-junctional intercellular communication (GJIC) induced or strengthened by low intensity magnetic field with carcinogen 12-O-tetradecanoylphorbol-13-acetate (TPA).

Methods: Fibroblast cells from NIH 3T3 mice were exposed to extremely low intensity magnetic field (MF) 0.2 mT, 0.

[Rapid screening of katG gene mutation in isoniazid-resistant Mycobacterium tuberculosis].

OBJECTIVE: To evaluate the relationship between katG gene mutation and isoniazid (INH) resistance and to develop a rapid screening method of point mutation in the katG gene associated with MTB resistance. METHODS: Twenty-four clinical isolates of MTB with 8 INH resigtance isolates and 16 INH-sensitive isolates were analyzed by PCR-RFLP, with the H(37)Rv reference strain as the control. RESULTS: G-->C point mutations were detected in 7 of 8 isoniazid-resistant strains and no gene mutation was shown in 16 isoniazid-sensitive isolates.